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Protein

Cytochrome b-245 light chain

Gene

CYBA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi94Iron (heme axial ligand)Sequence analysis1

GO - Molecular functioni

  • electron carrier activity Source: UniProtKB
  • heme binding Source: InterPro
  • metal ion binding Source: UniProtKB-KW
  • protein heterodimerization activity Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL
  • superoxide-generating NADPH oxidase activity Source: Reactome

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

BioCyciZFISH:ENSG00000051523-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-1236973. Cross-presentation of particulate exogenous antigens (phagosomes).
R-HSA-3299685. Detoxification of Reactive Oxygen Species.
R-HSA-4420097. VEGFA-VEGFR2 Pathway.
R-HSA-5668599. RHO GTPases Activate NADPH Oxidases.
R-HSA-6798695. Neutrophil degranulation.

Protein family/group databases

TCDBi5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b-245 light chain
Alternative name(s):
Cytochrome b(558) alpha chain
Cytochrome b558 subunit alpha
Neutrophil cytochrome b 22 kDa polypeptide
Superoxide-generating NADPH oxidase light chain subunit
p22 phagocyte B-cytochrome
p22-phox
Short name:
p22phox
Gene namesi
Name:CYBA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:2577. CYBA.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Intramembranei91 – 127Add BLAST37

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • dendrite Source: Ensembl
  • endoplasmic reticulum membrane Source: Reactome
  • endosome Source: Ensembl
  • focal adhesion Source: Ensembl
  • Golgi apparatus Source: Ensembl
  • membrane Source: UniProtKB
  • mitochondrion Source: Ensembl
  • NADPH oxidase complex Source: BHF-UCL
  • neuronal cell body Source: Ensembl
  • nucleus Source: Ensembl
  • perinuclear endoplasmic reticulum Source: Ensembl
  • phagocytic vesicle membrane Source: Reactome
  • plasma membrane Source: Reactome
  • secretory granule Source: BHF-UCL
  • stress fiber Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.
See also OMIM:233690
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275524G → R in ARCGD. 4 PublicationsCorresponds to variant rs28941476dbSNPEnsembl.1
Natural variantiVAR_07186025G → D in ARCGD. 1 Publication1
Natural variantiVAR_06057625G → V in ARCGD. 1 PublicationCorresponds to variant rs179363891dbSNPEnsembl.1
Natural variantiVAR_06057752L → P in ARCGD. 1 PublicationCorresponds to variant rs179363890dbSNPEnsembl.1
Natural variantiVAR_06057853E → V in ARCGD. 1 PublicationCorresponds to variant rs179363893dbSNPEnsembl.1
Natural variantiVAR_00512390R → Q in ARCGD. 1 PublicationCorresponds to variant rs104894513dbSNPEnsembl.1
Natural variantiVAR_06057990R → W in ARCGD. 1 PublicationCorresponds to variant rs179363892dbSNPEnsembl.1
Natural variantiVAR_00512494H → R in ARCGD. 1 PublicationCorresponds to variant rs104894510dbSNPEnsembl.1
Natural variantiVAR_005125118S → R in ARCGD. 2 PublicationsCorresponds to variant rs104894514dbSNPEnsembl.1
Natural variantiVAR_060580124A → V in ARCGD. 2 PublicationsCorresponds to variant rs179363894dbSNPEnsembl.1
Natural variantiVAR_060581125A → T in ARCGD. 2 PublicationsCorresponds to variant rs119103269dbSNPEnsembl.1
Natural variantiVAR_005126156P → Q in ARCGD. 2 PublicationsCorresponds to variant rs104894515dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi157P → Q: Loss of interaction with NOXO1. 1 Publication1

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

DisGeNETi1535.
MalaCardsiCYBA.
MIMi233690. phenotype.
OpenTargetsiENSG00000051523.
Orphaneti379. Chronic granulomatous disease.
PharmGKBiPA27075.

Chemistry databases

DrugBankiDB00514. Dextromethorphan.

Polymorphism and mutation databases

BioMutaiCYBA.
DMDMi311033459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001449072 – 195Cytochrome b-245 light chainAdd BLAST194

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei147PhosphothreonineCombined sources1 Publication1
Modified residuei168PhosphoserineBy similarity1

Post-translational modificationi

The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP13498.
MaxQBiP13498.
PaxDbiP13498.
PeptideAtlasiP13498.
PRIDEiP13498.

PTM databases

iPTMnetiP13498.
PhosphoSitePlusiP13498.

Expressioni

Gene expression databases

BgeeiENSG00000051523.
CleanExiHS_CYBA.
ExpressionAtlasiP13498. baseline and differential.
GenevisibleiP13498. HS.

Organism-specific databases

HPAiCAB009492.

Interactioni

Subunit structurei

Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1 (via SH3 domain). Interacts with SH3PXD2A (By similarity). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9).By similarity5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NCF1P145987EBI-986058,EBI-395044
NOXO1Q8NFA26EBI-986058,EBI-7130806

GO - Molecular functioni

  • protein heterodimerization activity Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107915. 10 interactors.
DIPiDIP-37650N.
IntActiP13498. 7 interactors.
MINTiMINT-5209680.
STRINGi9606.ENSP00000261623.

Structurei

Secondary structure

1195
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi161 – 165Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WLPNMR-A149-168[»]
ProteinModelPortaliP13498.
SMRiP13498.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13498.

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi133 – 189Pro-richAdd BLAST57

Sequence similaritiesi

Belongs to the p22phox family.Curated

Phylogenomic databases

eggNOGiENOG410IXYN. Eukaryota.
ENOG4111MI6. LUCA.
GeneTreeiENSGT00390000002290.
HOGENOMiHOG000001585.
HOVERGENiHBG051278.
InParanoidiP13498.
KOiK08009.
OMAiKIEWAMW.
PhylomeDBiP13498.
TreeFamiTF328901.

Family and domain databases

InterProiIPR007732. Cyt_b558_asu.
[Graphical view]
PANTHERiPTHR15168. PTHR15168. 1 hit.
PfamiPF05038. Cytochrom_B558a. 1 hit.
[Graphical view]
PIRSFiPIRSF019635. Cytochr_b558a. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P13498-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGQIEWAMWA NEQALASGLI LITGGIVATA GRFTQWYFGA YSIVAGVFVC
60 70 80 90 100
LLEYPRGKRK KGSTMERWGQ KYMTAVVKLF GPFTRNYYVR AVLHLLLSVP
110 120 130 140 150
AGFLLATILG TACLAIASGI YLLAAVRGEQ WTPIEPKPRE RPQIGGTIKQ
160 170 180 190
PPSNPPPRPP AEARKKPSEE EAAVAAGGPP GGPQVNPIPV TDEVV
Length:195
Mass (Da):21,013
Last modified:November 2, 2010 - v3
Checksum:i428427AD19398240
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01275524G → R in ARCGD. 4 PublicationsCorresponds to variant rs28941476dbSNPEnsembl.1
Natural variantiVAR_07186025G → D in ARCGD. 1 Publication1
Natural variantiVAR_06057625G → V in ARCGD. 1 PublicationCorresponds to variant rs179363891dbSNPEnsembl.1
Natural variantiVAR_06057752L → P in ARCGD. 1 PublicationCorresponds to variant rs179363890dbSNPEnsembl.1
Natural variantiVAR_06057853E → V in ARCGD. 1 PublicationCorresponds to variant rs179363893dbSNPEnsembl.1
Natural variantiVAR_00512272Y → H.3 PublicationsCorresponds to variant rs4673dbSNPEnsembl.1
Natural variantiVAR_00512390R → Q in ARCGD. 1 PublicationCorresponds to variant rs104894513dbSNPEnsembl.1
Natural variantiVAR_06057990R → W in ARCGD. 1 PublicationCorresponds to variant rs179363892dbSNPEnsembl.1
Natural variantiVAR_00512494H → R in ARCGD. 1 PublicationCorresponds to variant rs104894510dbSNPEnsembl.1
Natural variantiVAR_005125118S → R in ARCGD. 2 PublicationsCorresponds to variant rs104894514dbSNPEnsembl.1
Natural variantiVAR_060580124A → V in ARCGD. 2 PublicationsCorresponds to variant rs179363894dbSNPEnsembl.1
Natural variantiVAR_060581125A → T in ARCGD. 2 PublicationsCorresponds to variant rs119103269dbSNPEnsembl.1
Natural variantiVAR_005126156P → Q in ARCGD. 2 PublicationsCorresponds to variant rs104894515dbSNPEnsembl.1
Natural variantiVAR_060582171E → G.1 PublicationCorresponds to variant rs72667005dbSNPEnsembl.1
Natural variantiVAR_054801174V → A.5 PublicationsCorresponds to variant rs1049254dbSNPEnsembl.1
Natural variantiVAR_060583193E → D.1 PublicationCorresponds to variant rs72667006dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M21186 mRNA. Translation: AAA90925.1.
BT006861 mRNA. Translation: AAP35507.1.
AC116552 Genomic DNA. No translation available.
BC006465 mRNA. Translation: AAH06465.1.
AH002664 Genomic DNA. Translation: AAA52134.1.
CCDSiCCDS32504.1.
PIRiA28201.
RefSeqiNP_000092.2. NM_000101.3.
UniGeneiHs.513803.

Genome annotation databases

EnsembliENST00000261623; ENSP00000261623; ENSG00000051523.
GeneIDi1535.
KEGGihsa:1535.
UCSCiuc002flb.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

CYBAbase

CYBA mutation db

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M21186 mRNA. Translation: AAA90925.1.
BT006861 mRNA. Translation: AAP35507.1.
AC116552 Genomic DNA. No translation available.
BC006465 mRNA. Translation: AAH06465.1.
AH002664 Genomic DNA. Translation: AAA52134.1.
CCDSiCCDS32504.1.
PIRiA28201.
RefSeqiNP_000092.2. NM_000101.3.
UniGeneiHs.513803.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WLPNMR-A149-168[»]
ProteinModelPortaliP13498.
SMRiP13498.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107915. 10 interactors.
DIPiDIP-37650N.
IntActiP13498. 7 interactors.
MINTiMINT-5209680.
STRINGi9606.ENSP00000261623.

Chemistry databases

DrugBankiDB00514. Dextromethorphan.

Protein family/group databases

TCDBi5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

PTM databases

iPTMnetiP13498.
PhosphoSitePlusiP13498.

Polymorphism and mutation databases

BioMutaiCYBA.
DMDMi311033459.

Proteomic databases

EPDiP13498.
MaxQBiP13498.
PaxDbiP13498.
PeptideAtlasiP13498.
PRIDEiP13498.

Protocols and materials databases

DNASUi1535.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261623; ENSP00000261623; ENSG00000051523.
GeneIDi1535.
KEGGihsa:1535.
UCSCiuc002flb.5. human.

Organism-specific databases

CTDi1535.
DisGeNETi1535.
GeneCardsiCYBA.
GeneReviewsiCYBA.
H-InvDBHIX0013335.
HGNCiHGNC:2577. CYBA.
HPAiCAB009492.
MalaCardsiCYBA.
MIMi233690. phenotype.
608508. gene.
neXtProtiNX_P13498.
OpenTargetsiENSG00000051523.
Orphaneti379. Chronic granulomatous disease.
PharmGKBiPA27075.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IXYN. Eukaryota.
ENOG4111MI6. LUCA.
GeneTreeiENSGT00390000002290.
HOGENOMiHOG000001585.
HOVERGENiHBG051278.
InParanoidiP13498.
KOiK08009.
OMAiKIEWAMW.
PhylomeDBiP13498.
TreeFamiTF328901.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000051523-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-1236973. Cross-presentation of particulate exogenous antigens (phagosomes).
R-HSA-3299685. Detoxification of Reactive Oxygen Species.
R-HSA-4420097. VEGFA-VEGFR2 Pathway.
R-HSA-5668599. RHO GTPases Activate NADPH Oxidases.
R-HSA-6798695. Neutrophil degranulation.

Miscellaneous databases

ChiTaRSiCYBA. human.
EvolutionaryTraceiP13498.
GenomeRNAii1535.
PROiP13498.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000051523.
CleanExiHS_CYBA.
ExpressionAtlasiP13498. baseline and differential.
GenevisibleiP13498. HS.

Family and domain databases

InterProiIPR007732. Cyt_b558_asu.
[Graphical view]
PANTHERiPTHR15168. PTHR15168. 1 hit.
PfamiPF05038. Cytochrom_B558a. 1 hit.
[Graphical view]
PIRSFiPIRSF019635. Cytochr_b558a. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiCY24A_HUMAN
AccessioniPrimary (citable) accession number: P13498
Secondary accession number(s): Q14090, Q9BR72
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: November 2, 2010
Last modified: November 30, 2016
This is version 173 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.